Intra-condensate demixing of TDP-43 inside stress granules generates pathological aggregates

Research output: Contribution to journalResearch articleContributedpeer-review

Contributors

  • Xiao Yan - , Max Planck Institute of Molecular Cell Biology and Genetics (Author)
  • David Kuster - , Max Planck Institute of Molecular Cell Biology and Genetics (Author)
  • Priyesh Mohanty - , Texas A&M University (Author)
  • Jik Nijssen - , Max Planck Institute of Molecular Cell Biology and Genetics (Author)
  • Karina Pombo-García - , Max Planck Institute of Molecular Cell Biology and Genetics (Author)
  • Jorge Garcia Morato - , Mayo Clinic Jacksonville, FL (Author)
  • Azamat Rizuan - , Texas A&M University (Author)
  • Titus M Franzmann - , Chair of Cellular Biochemistry (Author)
  • Aleksandra Sergeeva - , Chair of Cellular Biochemistry, Max Planck Institute of Molecular Cell Biology and Genetics (Author)
  • Anh M Ly - , Mayo Clinic Jacksonville, FL (Author)
  • Feilin Liu - , Mayo Clinic Jacksonville, FL (Author)
  • Patricia M Passos - , Saint Louis University (Author)
  • Leah George - , Saint Louis University (Author)
  • Szu-Huan Wang - , Brown University (Author)
  • Jayakrishna Shenoy - , Brown University (Author)
  • Helen L Danielson - , Brown University (Author)
  • Busra Ozguney - , Texas A&M University (Author)
  • Alf Honigmann - , Chair of Biophysics (Author)
  • Yuna M Ayala - , Saint Louis University (Author)
  • Nicolas L Fawzi - , Brown University (Author)
  • Dennis W Dickson - , Mayo Clinic Jacksonville, FL (Author)
  • Wilfried Rossoll - , Mayo Clinic Jacksonville, FL (Author)
  • Jeetain Mittal - , Texas A&M University (Author)
  • Simon Alberti - , Chair of Cellular Biochemistry (Author)
  • Anthony A Hyman - , Max Planck Institute of Molecular Cell Biology and Genetics (Author)

Abstract

Cytosolic aggregation of the nuclear protein TAR DNA-binding protein 43 (TDP-43) is associated with many neurodegenerative diseases, but the triggers for TDP-43 aggregation are still debated. Here, we demonstrate that TDP-43 aggregation requires a double event. One is up-concentration in stress granules beyond a threshold, and the other is oxidative stress. These two events collectively induce intra-condensate demixing, giving rise to a dynamic TDP-43-enriched phase within stress granules, which subsequently transition into pathological aggregates. Intra-condensate demixing of TDP-43 is observed in iPS-motor neurons, a disease mouse model, and patient samples. Mechanistically, intra-condensate demixing is triggered by local unfolding of the RRM1 domain for intermolecular disulfide bond formation and by increased hydrophobic patch interactions in the C-terminal domain. By engineering TDP-43 variants resistant to intra-condensate demixing, we successfully eliminate pathological TDP-43 aggregates in cells. We suggest that up-concentration inside condensates followed by intra-condensate demixing could be a general pathway for protein aggregation.

Details

Original languageEnglish
Pages (from-to)4123-4140.e18
JournalCell
Volume188
Issue number15
Publication statusPublished - 24 Jul 2025
Peer-reviewedYes

External IDs

PubMedCentral PMC12303766
Scopus 105005869906
ORCID /0000-0003-4017-6505/work/191040361
ORCID /0000-0003-0475-3790/work/191041724
ORCID /0000-0002-4281-7209/work/196680207

Keywords

Keywords

  • Animals, DNA-Binding Proteins/metabolism, Disease Models, Animal, Humans, Mice, Motor Neurons/metabolism, Neurodegenerative Diseases/metabolism, Oxidative Stress, Protein Aggregates, Protein Aggregation, Pathological/metabolism, Protein Domains, Stress Granules/metabolism